Defects of Keratinocytes Function in Dermatologic Patients
1 other identifier
observational
50
6 countries
15
Brief Summary
NOTCH signaling in the skin exerts a pivotal role in the regulation of normal keratinocytes turnover by mediating the balance between proliferation, differentiation, apoptosis and autophagic flux progression. Two skin diseases are characterized by the presence of gene variants that cause an impairment in NOTCH signaling: hidradenitis suppurativa(HS) and Dowling-Degos disease(DDD). To date, both HS and DDD are orphan diseases still lacking of specific treatments. This project aims at improving the current knowledge on the pathogenesis of HS and DDD, by deepening the understandings on the role played by keratinocytes in these pathologies and also by determining why mutations found in the same pathway cause different diseases. This study aimed to obtain in vitro models, derived directly from patients (from hair follicles) and from keratinocytes (HaCaT) cell cultures, for the study of these skin pathologies and also for the testing of novel innovative therapies such as photobiomodulation therapy.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Oct 2020
Longer than P75 for all trials
15 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
October 12, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 3, 2023
CompletedFirst Submitted
Initial submission to the registry
March 15, 2024
CompletedFirst Posted
Study publicly available on registry
March 22, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
August 31, 2024
CompletedJune 14, 2024
June 1, 2024
2.6 years
March 15, 2024
June 13, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Evaluation of the impact of candidate variants in hair follicles epithelial cell biology by generating Knock-Out (KO) keratinocyte cell lines (HaCaT)
Through study completion, an average of 36 months
Secondary Outcomes (1)
Evaluation of the impact of photobiomodulation (PBM) therapy in hair follicles epithelial cells derived from patients and in HaCaT KO cells,
Through study completion, an average of 36 months
Eligibility Criteria
Children and adults with clinical diagnosis of HS
You may qualify if:
- diagnosis of HS
You may not qualify if:
- no informed consent
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (15)
Medical University Innsbruck
Innsbruck, Austria
Université Libre de Bruxelles
Brussels, Belgium
Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)
Créteil, France
Centre National de la Recherche Scientifique
Strasbourg, France
Dessau Medical Cente
Brandenburg, Germany
Uniklinik Köln
Cologne, Germany
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic
Milan, Italy
Azienda ospedaliero-universitaria pisana
Pisa, Italy
Istituto Dermopatico dell'Immacolata, IRCCS
Roma, Italy
Passion people
Roma, Italy
Policlinico Universitario Fondazione A. Gemelli IRCCS
Roma, Italy
Ospedale Maggiore di Trieste
Trieste, 34125, Italy
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"
Trieste, 34137, Italy
Ospedale San Bortolo
Vicenza, Italy
Jozef Stefan Institute
Ljubljana, Slovenia
Biospecimen
Blood samples
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 15, 2024
First Posted
March 22, 2024
Study Start
October 12, 2020
Primary Completion
June 3, 2023
Study Completion
August 31, 2024
Last Updated
June 14, 2024
Record last verified: 2024-06